6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
20 citations
,
January 2012 in “Indian Journal of Endocrinology and Metabolism” This study found that 76.19% of patients with acquired hypoparathyroidism had mucocutaneous manifestations, with common features including loss of hair and xerotic skin.
7 citations
,
August 2020 in “Scientifica” This study found that a high percentage of HIV-positive patients experienced mucocutaneous lesions, with conditions like oral candidiasis and furuncle being significantly associated with lower CD4 cell counts.
55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” This study found that the TLR3 L412F genetic variant is associated with severe viral infections, especially CMV, and immune dysfunction in a subgroup of chronic mucocutaneous candidiasis patients.
16 citations
,
January 2010 in “Indian Journal of Dermatology, Venereology and Leprology” This review discusses the role of skin manifestations as early markers and prognostic indicators of HIV infection in children but reports no new clinical results.
16 citations
,
January 1995 in “Dermatology” This case report discusses chronic mucocutaneous candidiasis with autoimmune and immune deficiencies in candidiasis-endocrinopathy syndrome, noting associated alopecia areata, ineffective topical immunotherapy, and asplenia.
January 2024 in “Biomedicines” This review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.
2 citations
,
September 2014 in “Journal of evolution of medical and dental sciences” In this study, 92% of HIV-infected patients had mucocutaneous manifestations, with oral candidiasis being the most common condition observed.
September 2024 in “Clinical Case Reports” This case report highlights a rare presentation of APS-1 in a 28-year-old Pakistani male with cardiovascular and pulmonary symptoms, illustrating the importance of early recognition and multidisciplinary management for improved patient outcomes.
January 2017 in “IMC Journal of Medical Science” This case report describes a 26-year-old man from Bangladesh diagnosed with autoimmune polyendocrine syndrome type 1, a rare endocrine disorder involving adrenocortical insufficiency, hypoparathyroidism, and mucocutaneous candidiasis.
6 citations
,
September 2013 in “Journal of Evolution of Medical and Dental Sciences” This study observed a wide range of mucocutaneous disorders among HIV-infected individuals in India, with a significant association between low CD4 cell counts and the presence of infectious and inflammatory skin conditions.
62 citations
,
January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
31 citations
,
May 2021 in “Journal of endocrinological investigation” This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.
26 citations
,
September 2009 in “Clinical genetics” This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.
2 citations
,
December 2020 in “Endocrinology, diabetes & metabolism case reports” This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.
4 citations
,
January 2010 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study described the clinical course of six young patients with type 1 autoimmune polyglandular failure, all of whom initially presented with hypoparathyroidism followed by mucocutaneous candidiasis and adrenal failure.
8 citations
,
December 1981 in “Journal of The American Academy of Dermatology” This review addresses clinical findings in parathyroid disease and discusses the metabolism of calcium, phosphorus, vitamin D, and parathyroid hormone, reporting no new results.
May 2023 in “Asian journal of research in pharmaceutical sciences” This study concluded that topical ketoconazole is effective and safe for treating superficial fungal infections and has potential for new dermatologic uses despite concerns over oral administration's adverse effects.
86 citations
,
October 2017 in “Translational pediatrics” This review discusses how ophthalmic findings can reveal key endocrine disorders and reports no new clinical results, emphasizing the eye's role in diagnosing and managing systemic diseases like diabetes and Graves' ophthalmopathy.
53 citations
,
November 1992 in “Mayo Clinic Proceedings” This review discusses the cutaneous manifestations associated with HIV infection, highlighting that these skin conditions often present atypically and are more severe compared to those in non-HIV-infected individuals; it reports no new clinical findings.
2 citations
,
March 2017 in “TURKDERM” This study observed that pediatric bone marrow transplantation patients frequently experience various dermatological issues; mucositis and xeroderma were the most common.
November 2013 in “John Wiley & Sons, Ltd eBooks” This chapter reviews various mucocutaneous manifestations of endocrine disorders and provides illustrative images of these clinical features, but reports no new research findings.
55 citations
,
November 2004 in “Expert opinion on drug safety” This review describes the variety of mucocutaneous side effects caused by antineoplastic chemotherapy, with emphasis on skin, nails, and mucous membranes, while highlighting potential severity and the possibility of needing to adjust or interrupt treatment in rare cases; it presents no new clinical results.
12 citations
,
April 2005 in “Mycoses” This study found that 1-day itraconazole therapy was more effective for acute vulvovaginal candidosis than for recurrent cases, where relapses occurred despite no yeast resistance.
6 citations
,
July 2011 in “British Journal of Dermatology” This paper reports a case of sebaceous carcinoma developing at the site of chronic candidiasis in a patient with keratitis–ichthyosis–deafness syndrome, without presenting new generalizable findings.
12 citations
,
July 2014 in “International Journal of STD & AIDS” This study found that dermatological manifestations in HIV-positive individuals, such as infectious and non-infectious dermatoses, were significantly associated with CD4 T cell count.
26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.
April 2024 in “Research Square (Research Square)” This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.
28 citations
,
March 2010 in “Clinics in dermatology” This review details historical advancements in understanding and treating superficial fungal infections, with notable milestones in identifying causative agents and developing effective treatments, but it reports no new findings.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.